Varaico: Literature-Extracted Genetic Variants

Gene:MKKS
Variant:p.H528Q

MKKS

302 papers

RefSeq Summary

This gene encodes a protein which shares sequence similarity with other members of the type II chaperonin family. The encoded protein is a centrosome-shuttling protein and plays an important role in c...

Pfam Domains

Cpn60_TCP1aa 29–570UCSCTCP-1/cpn60 chaperonin family

Gene Aliases

HGNC Name

MKKS centrosomal shuttling protein

HGNC Previous Symbol

BBS6

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_170784.3
p.H528Q
c.1584T>G
Surrounding Variants
15 papers
NM_170784.3
p.G532V
c.1595G>T
1 paper
NM_170784.3
p.S524N
c.1571G>A
1 paper
NM_170784.3
p.T538T
c.1614C>T
7 papers
NM_170784.3
p.R518H
c.1553G>A
16 papers
NM_170784.3
p.R517C
c.1549C>T
1 paper
NM_170784.3
p.S515_T516del2
c.1543_1547del6
4 papers
NM_170784.3
p.S511A
c.1531T>G
3 papers
NM_170784.3
p.W510*
c.1530G>A
3 papers
NM_170784.3
p.W510*
c.1529G>A
1 paper
NM_170784.3
p.G548D
c.1643G>A
4 papers
NM_170784.3
p.L549P
c.1646T>C
1 paper
NM_170784.3
p.Q550*
c.1648C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."